A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13694906



Internal ID21216754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241197239..241197553hg38UCSC Ensembl
chr1:241360539..241360853hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2801448
Supporting Variants
Samples
Known GenesRGS7
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13694906
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.84375


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